F99L (p.Phe99Leu) variant of KRT1 (Keratin, type II cytoskeletal 1)
F99L (p.Phe99Leu) in KRT1 (Keratin, type II cytoskeletal 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
F99L (p.Phe99Leu) variant details
- p.Phe99Leu
- Ensembl rs1941563473
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.30
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.65
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available